Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001247525 | SCV001420952 | uncertain significance | Zellweger spectrum disorders | 2022-10-24 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 734 of the PEX1 protein (p.Val734Ile). This variant is present in population databases (rs141510219, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 971689). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PEX1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Elsea Laboratory, |
RCV001250066 | SCV001424271 | uncertain significance | Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001250066 | SCV002814800 | uncertain significance | Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B | 2022-05-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003393917 | SCV004120285 | uncertain significance | PEX1-related condition | 2023-05-10 | criteria provided, single submitter | clinical testing | The PEX1 c.2200G>A variant is predicted to result in the amino acid substitution p.Val734Ile. This variant has been reported in a cohort study of children with obesity (Sabo et al. 2017. PubMed ID: 28508493). This variant is reported in 0.076% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-92132381-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Mayo Clinic Laboratories, |
RCV003481031 | SCV004224041 | uncertain significance | not provided | 2023-06-09 | criteria provided, single submitter | clinical testing | BP4 |
Natera, |
RCV001247525 | SCV002076872 | uncertain significance | Zellweger spectrum disorders | 2018-05-04 | no assertion criteria provided | clinical testing |